InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCNN1A

Summary

InnateDB Protein

IDBP-13893.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCNN1A

Protein Name

sodium channel, nonvoltage-gated 1 alpha

Synonyms

BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000353292

InnateDB Gene

IDBG-13885 (SCNN1A)

Protein Structure

UniProt Annotation

Function

Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. {ECO:0000269PubMed:24124190}.

Subcellular Localization

Apical cell membrane; Multi-pass membrane protein. Cell projection, cilium. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces.

Disease Associations

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269PubMed:10586178, ECO:0000269PubMed:15853823, ECO:0000269PubMed:18634878}. Note=The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). {ECO:0000269PubMed:18634878}.Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021]: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269PubMed:19462466}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart. {ECO:0000269PubMed:22207244, ECO:0000269PubMed:9575806}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005272	sodium channel activity
GO:0005515	protein binding
GO:0015280	ligand-gated sodium channel activity
GO:0050699	WW domain binding

Biological Process

GO:0006814	sodium ion transport
GO:0007588	excretion
GO:0034220	ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0050878	regulation of body fluid levels
GO:0050891	multicellular organismal water homeostasis
GO:0050896	response to stimulus
GO:0050909	sensory perception of taste
GO:0055078	sodium ion homeostasis
GO:0055085	transmembrane transport

Cellular Component

GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009897	external side of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0030864	cortical actin cytoskeleton
GO:0031514	motile cilium
GO:0034706	sodium channel complex
GO:0060170	ciliary membrane
GO:0070062	extracellular vesicular exosome